Bioinformatics analysis from raw data to disease driver variants

0

Entering edit mode

2.1 years ago

mathewarkit • 0

Hi!

I have a doubt! Which bioinformatics analysis would you perform to prioritise disease driver variants from raw sequencing data? Along with computational methods, file formats, quality measures, controls, annotation and statistics to assign genomic disease?

I have been asked for it and I can't find any proper literature to answer it

Thanks!

disease-driver variants • 773 views

ADD COMMENT • link updated 23 months ago by Ram 44k • written 2.1 years ago by mathewarkit • 0

0

Entering edit mode

map those raw sequencing data to a reference genome, extract the variants, filter the variants according to the studied disease.

ADD REPLY • link 2.1 years ago by Pierre Lindenbaum 164k

0

Entering edit mode

I have no doubt. Just google "variant prioritization".

ADD REPLY • link 2.1 years ago by Jeremy Leipzig 22k

0

Entering edit mode

Thank you! I will google it right now!

ADD REPLY • link 2.1 years ago by mathewarkit • 0

0

Entering edit mode

Search for GATK Best Practices

ADD REPLY • link 2.1 years ago by brunobsouzaa ▴ 830

Login before adding your answer.